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June 15, 2024American Journal of OphthalmologyOpen Access

Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy

Quan Zhang Junran Sun Zishi Liu Hong Wang Hao Zhou Wenjia Liu Huixun Jia Ningdong Li Tong Li Fenghua Wang Xiaodong Sun

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Abstract

This study aimed to characterize the clinical features, genetic findings, and genotype-phenotype correlations of patients with Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (EOSRD) harboring biallelic AIPL1 pathogenic variants.

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Cite This Study

Zhang et al. (2024) studied this question.

synapsesocial.com/papers/68e64892b6db6435875da2f5 https://doi.org/10.1016/j.ajo.2024.06.013

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy2024 · 1 citations
2Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis2024 · 4 citations
3Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA42024 · 21 citations
4Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German CohortRetrospective Study · 2023 · 12 citations
5[Analysis of clinical manifestations and genetic variants among 11 Chinese pedigrees affected with Leber congenital amaurosis].2025

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A survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort2025
Computational Evidence for Digenic Contribution of AIPL1 and BBS2 Rare Variants in Inherited Retinal Dystrophy2025
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes2010

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